Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia.
Familial defective apolipoprotein B-100 is a genetic disorder of apolipoprotein B-100 that causes moderate to severe hypercholesterolemia. A single amino acid mutation in apolipoprotein B diminishes the ability of low density lipoproteins to bind to the low density lipoprotein receptor. Low density lipoproteins accumulate in the plasma because their efficient receptor-mediated catabolism is disrupted. This mutation has been identified in the United States, Canada, and Europe and is estimated to occur at a frequency of approximately 1/500 in these populations. Thus, it appears that this newly described disorder may be a significant genetic cause of hypercholesterolemia in Western societies.
Innerarity
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Gladstone Foundation Laboratories for Cardiovascular Disease, University of California, San Francisco 94140-0608.
Mahley
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Weisgraber
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Bersot
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Krauss
R M
RM
Vega
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Grundy
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Friedl
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W
Davignon
J
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McCarthy
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BJ
D053299:Apolipoprotein B-100; D001055:Apolipoproteins B / Q000737:chemistry / Q000235:genetics*; D005260:Female; D005796:Genes; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D015183:Restriction Mapping
D053299:Apolipoprotein B-100; D001055:Apolipoproteins B